rs7126629

Variant names:

• chr11-2207722-C-A
• rs7126629

Your query was ambiguous. Multiple possible variants found:

• chr11-2207722-C-A
• chr11-2207722-C-T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.74 in 152,018 control chromosomes in the GnomAD database, including 42,488 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.74 (42488 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.44
• Publications: 22 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.87 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.741 AC: 112517 AN: 151900 Hom.: 42491 Cov.: 32

Gnomad AFR AF: 0.586

Gnomad AMI AF: 0.764

Gnomad AMR AF: 0.745

Gnomad ASJ AF: 0.770

Gnomad EAS AF: 0.891

Gnomad SAS AF: 0.777

Gnomad FIN AF: 0.746

Gnomad MID AF: 0.812

Gnomad NFE AF: 0.816

Gnomad OTH AF: 0.779

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.740 AC: 112553 AN: 152018 Hom.: 42488 Cov.: 32 AF XY: 0.741 AC XY: 55050 AN XY: 74298

African (AFR) AF: 0.585 AC: 24257 AN: 41456

American (AMR) AF: 0.745 AC: 11385 AN: 15292

Ashkenazi Jewish (ASJ) AF: 0.770 AC: 2675 AN: 3472

East Asian (EAS) AF: 0.892 AC: 4596 AN: 5154

South Asian (SAS) AF: 0.777 AC: 3748 AN: 4826

European-Finnish (FIN) AF: 0.746 AC: 7852 AN: 10526

Middle Eastern (MID) AF: 0.815 AC: 238 AN: 292

European-Non Finnish (NFE) AF: 0.816 AC: 55459 AN: 67980

Other (OTH) AF: 0.781 AC: 1646 AN: 2108

Alfa AF: 0.798 Hom.: 78124

Bravo AF: 0.732

Asia WGS AF: 0.800 AC: 2783 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	0.068
DANN	Benign	0.55
PhyloP100		-1.4

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs7126629; hg19: chr11-2228952;